Wan Zhi, Tang Xue, Gao Ju
Department of Pediatrics, West China Second University Hospital, Sichuan University, Sichuan, China.
Key Laboratory of Birth Defects and Related Diseases of Women and Children, Sichuan University, Ministry of Education, Chengdu, Sichuan, China.
J Pediatr Hematol Oncol. 2025 Mar 1;47(2):e111-e113. doi: 10.1097/MPH.0000000000002996. Epub 2025 Jan 13.
Langerhans cell histiocytosis (LCH) is characterized genetically by diverse gene mutations of the mitogen-activated protein kinase signaling cascade. BRAFN486_T491delinsK mutation is a rare mutation that involves the β2-αC ring domain, causing activation of the mitogen-activated protein kinase pathway, and is predicted to be resistant to the chemotherapy and BRAFV600E inhibitor in adult LCH cases. Here, we report a childhood LCH case with this novel BRAF mutation and had a good response to conventional chemotherapy. This case report suggests that children with BRAFN486_T491delinsK mutation might differ from adult counterparts in terms of clinical behavior, and conventional chemotherapy might still be an effective therapy.
朗格汉斯细胞组织细胞增多症（LCH）在基因上的特征是丝裂原活化蛋白激酶信号级联的多种基因突变。BRAF N486_T491delinsK突变是一种罕见突变，涉及β2-αC环结构域，导致丝裂原活化蛋白激酶途径激活，预计在成人LCH病例中对化疗和BRAF V600E抑制剂耐药。在此，我们报告一例患有这种新型BRAF突变的儿童LCH病例，该病例对传统化疗反应良好。本病例报告表明，携带BRAF N486_T491delinsK突变的儿童在临床行为方面可能与成人不同，传统化疗可能仍然是一种有效的治疗方法。
